Title: Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities
Authors: BECKER FraukeVAN EL Carla GIBARRETA RUIZ DoloresZIKA EleniHOGARTH StuartBORRY PascalCAMBON-THOMSEN AnneCASSIMAN Jean JacquesEVERS-KIEBOOMS GerryHODGSON ShirleyJANSSENS A Cecile JwKAARIAINEN HelenaKRAWCZAK MichaelKRISTOFFERSSON UlfLUBINSKI JanPATCH ChristinePENCHASZADEH Victor BREAD AndrewROGOWSKI WolfSEQUEIROS JorgeTRANEBJAERG LisbethVAN LANGEN Irene MWALLACE HelenZIMMERN RonSCHMIDTKE Jo¨rgCORNEL Martina C
Citation: EUROPEAN JOURNAL OF HUMAN GENETICS vol. 19 p. S6-S44
Publisher: NATURE PUBLISHING GROUP
Publication Year: 2011
JRC N°: JRC64471
ISSN: 1018-4813
URI: http://www.nature.com/ejhg/journal/v19/n1s/full/ejhg2010249a.html
http://publications.jrc.ec.europa.eu/repository/handle/JRC64471
DOI: 10.1038/ejhg.2010.249
Type: Articles in Journals
Abstract: This paper discusses genetic testing and common disorders from a health-care perspective. New possibilities for genetic testing confront health-care workers with the question of whom to test and which test to use. This document focuses on genetic testing and screening in common disorders. The term ¿common disorder¿ is used for disorders that individually have a high impact on public health.Examples of common disorders include cardiovascular disease (CVD), stroke, diabetes, cancer, dementia, and depression. For a health-care practitioner ¿ unlike a geneticist or an epidemiologist ¿ it may not be clear whether a common disorder is due to one gene with a high risk of serious disease, or due to a combination of several genes and several environmental factors. This document will not consider germline prenatal or preconceptional testing, nor testing of biomarkers for tumor recurrence, but it will discuss testing of mutations in tumor tissue, since this may reveal susceptibility to certain forms of therapy. Also, pharmacogenomic applications will not be discussed in depth, although some examples will be given of pharmacogenomic testing. The outlne is as following: First, the terrain of common complex disorders is introduced. Different assessment frames for genetic testing and screening are discussed. The section following that examines the aims and strategies for genetic testing and screening in common disorders and discusses some examples of current testing and screening in Europe. The section ¿The economic evaluation of genetic tests¿ discusses the cost¿benefit relation of different types of tests and screening strategies and how they could be used in the clinic in a cost-effective way. The subsequent section addresses the ethical, legal, and social issues of testing and screening in common disorders. The last section addresses regulatory and intellectual property issues in the EU as well as the United States.
JRC Institute:Institute for Prospective Technological Studies

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